A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry (LysoNeo)
The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected. Based on our previous pilot study (2011) assessing MCAD and PKU using tandem mass spectrometry-based method in Normandie region in which informed consents have been signed for all newborns (43,000) but we are expecting a great willingness to participate to this project. Thus, we are aiming to include 100,000 newborns, and the study will be continued until we reach at least this target.
The primary objective is to evaluate the epidemiology of MPS1 and Pompe disease using dried blood samples in the first cohort of neonates tested in France (Normandie region).
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Soumeya BEKRI, Pr
- Phone Number: 8990 +3323288
- Email: soumeya.bekri@chu-rouen.fr
Study Contact Backup
- Name: Julien BLOT
- Phone Number: 8265 +3323288
- Email: julien.blot@chu-rouen.fr
Study Locations
-
-
-
Caen, France
- Recruiting
- Caen University hospital
-
Contact:
- David GUENET, MD
-
Rouen, France
- Recruiting
- Rouen University Hospital
-
Contact:
- Soumeya BEKRI
- Phone Number: 8990 +3323288
- Email: soumeya.bekri@chu-rouen.fr
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- Newborn in a Normandy maternity hospital
- Newborn participating in the National Neonatal Screening Program
- Holder(s) of parental authority having read and understood the information letter and signed the informed consent form
Exclusion Criteria:
There are no criteria for non-inclusion in this study. Participation in the study, such as participation in the National Neonatal Screening Program, is not mandatory.
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
|---|---|
|
neonates tested in Normandie, France
All neonates will be tested in Normandie
|
Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
|---|---|
|
Number of newborns in relation to the number of cases of blotting paper collected
Time Frame: From day 2 to day 4
|
From day 2 to day 4
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
|---|---|
|
Number of newborns with positive sample for Mucopolysaccharidosis type I
Time Frame: From day 2 to day 4
|
From day 2 to day 4
|
|
Number of newborns with positive sample for Pompe disease
Time Frame: From day 2 to day 4
|
From day 2 to day 4
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Soumeya BEKRI, Pr, University Hospital, Rouen
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 2020/0007/HP
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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